(Q57389951)

1

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Jean-Paul Saint-André

2

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Debbie Hicks

3

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Anna Sarkozy

4

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Anne Croué

5

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Judith Hudson

6

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Frédéric Dubas

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

8

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publication date

19 April 2012

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published in

Journal of Neurology

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volume

259

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issue

9

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page(s)

1988-1990

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cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

A new distal myopathy with mutation in anoctamin 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Novel diagnostic features of dysferlinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Chlamydophila pneumoniae Infection Induced Nodular Vasculitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-012-6502-X

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22527239

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22527239

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22527239